Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.25004210_25005726delCA2573158583ARXc.1449-816_*460del
ClinVar
Xg.25004734_25004841delCA2558513964ARXc.1521_1628del (p.Val508_Ala543del)
Xg.25004798_25004839delinsCCGGGTCGGCCAGGGCGCCCGATGCCACTGCGCCCTCCACGGCA2420205933ARXc.1520_1561delinsCCGTGGAGGGCGCAGTGGCATCGGGCGCCCTGGCCGACCCGG (p.Ala507=)
Xg.25004804_25004844delCA891843837ARXc.1520_1560del (p.Ala507GlyfsTer11)
ClinVar dbSNP
Xg.25004809_25004824delinsAGGGCGCCCGATGCCACA2420205944ARXc.1535_1550delinsTGGCATCGGGCGCCCT (p.Val512=)
Xg.25004810_25004824delinsCTGCGCCCA645373294ARXc.1535_1549delinsGGCGCAG (p.Val512GlyfsTer17)
ClinVar dbSNP
Xg.25004814_25004815delinsGCCA2420205946ARXc.1544_1545delinsGC (p.Gly515=)
Xg.25004815C>ACA412610789ARXc.1544G>T (p.Gly515Val)
Xg.25004815C>GCA412610790ARXc.1544G>C (p.Gly515Ala)
Xg.25004815C>TCA412610788ARXc.1544G>A (p.Gly515Asp)
gnomAD v4
Xg.25004817delCA171147ARXc.1544del (p.Gly515AlafsTer18)
ClinVar dbSNP
Xg.25004816C>ACA412610791ARXc.1543G>T (p.Gly515Cys)
gnomAD v4
Xg.25004816C=CA2420205947ARXc.1543G= (p.Gly515=)
Xg.25004816C>GCA412610792ARXc.1543G>C (p.Gly515Arg)
Xg.25004816C>TCA412610793ARXc.1543G>A (p.Gly515Ser)
dbSNP
Xg.25004817C>ACA515748089ARXc.1542G>T (p.Ser514=)
gnomAD v4
Xg.25004817C=CA2420205948ARXc.1542G= (p.Ser514=)
Xg.25004817C>GCA515748090ARXc.1542G>C (p.Ser514=)
ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.25004817C>TCA515748091ARXc.1542G>A (p.Ser514=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.25004818G>ACA412610794ARXc.1541C>T (p.Ser514Leu)
gnomAD v4
Xg.25004818G>CCA412610795ARXc.1541C>G (p.Ser514Trp)
ClinVar dbSNP
Xg.25004818G=CA2420205949ARXc.1541C= (p.Ser514=)
Xg.25004818G>TCA412610796ARXc.1541C>A (p.Ser514Ter)
COSMIC
Xg.25004819A=CA2420205950ARXc.1540T= (p.Ser514=)
Xg.25004819A>CCA412610797ARXc.1540T>G (p.Ser514Ala)
Xg.25004819A>GCA412610798ARXc.1540T>C (p.Ser514Pro)
gnomAD v4
Xg.25004819A>TCA412610799ARXc.1540T>A (p.Ser514Thr)
dbSNP
Xg.25004820T>ACA515748092ARXc.1539A>T (p.Ala513=)
Xg.25004820T>CCA515748093ARXc.1539A>G (p.Ala513=)
Xg.25004820T>GCA515748094ARXc.1539A>C (p.Ala513=)
Xg.25004821G>ACA412610800ARXc.1538C>T (p.Ala513Val)
Xg.25004821G>CCA412610801ARXc.1538C>G (p.Ala513Gly)
Xg.25004821G>TCA412610802ARXc.1538C>A (p.Ala513Glu)
Xg.25004822C>ACA412610805ARXc.1537G>T (p.Ala513Ser)
gnomAD v4
Xg.25004822C>GCA412610803ARXc.1537G>C (p.Ala513Pro)
Xg.25004822C>TCA412610804ARXc.1537G>A (p.Ala513Thr)
gnomAD v4
Xg.25004823C>ACA515748095ARXc.1536G>T (p.Val512=)
Xg.25004823C>GCA515748096ARXc.1536G>C (p.Val512=)
Xg.25004823C>TCA515748097ARXc.1536G>A (p.Val512=)
gnomAD v4
Xg.25004824A>CCA412610806ARXc.1535T>G (p.Val512Gly)
Xg.25004824A>GCA412610807ARXc.1535T>C (p.Val512Ala)
Xg.25004824A>TCA412610808ARXc.1535T>A (p.Val512Glu)
Xg.25004825C>ACA412610809ARXc.1534G>T (p.Val512Leu)
gnomAD v4
Xg.25004825C=CA2420205951ARXc.1534G= (p.Val512=)
Xg.25004825C>GCA412610810ARXc.1534G>C (p.Val512Leu)
dbSNP
Xg.25004825C>TCA412610811ARXc.1534G>A (p.Val512Met)
Xg.25004826T>ACA515748098ARXc.1533A>T (p.Ala511=)
Xg.25004826T>CCA515748099ARXc.1533A>G (p.Ala511=)
ClinVar dbSNP gnomAD v4
Xg.25004826T>GCA515748100ARXc.1533A>C (p.Ala511=)
Xg.25004826T=CA2420205952ARXc.1533A= (p.Ala511=)

Number of alleles fetched